伴FGFR3基因突变初诊多发性骨髓瘤患者临床特征和预后分析  

Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations

作　　者：沈娜 张珏 夏园 沈旭星 王静[1] 金媛媛 张闰[1] 李建勇[1] 陈丽娟[1] Shen Na;Zhang Jue;Xia Yuan;Shen Xuxing;Wang Jing;Jin Yuanyuan;Zhang Run;Li Jianyong;Chen Lijuan(Department of Hematology,the First Affiliated Hospital of Nanjing Medical University,Jiangsu Province Hospital,Nanjing 210029,China)

机构地区：[1]南京医科大学第一附属医院,江苏省人民医院血液科,南京210029

出　　处：《中华血液学杂志》2023年第12期989-994,共6页Chinese Journal of Hematology

基　　金：国家自然科学基金(82070223);江苏省科技计划专项资金社会发展项目(BE2022810)。

摘　　要：目的探讨FGFR3基因突变对初诊多发性骨髓瘤(MM)患者临床特征及预后的影响。方法回顾性分析2016年1月至2023年2月江苏省人民医院血液科诊治的198例初诊MM患者,所有患者采用二代测序技术检测FGFR3基因突变,以及胞质轻链免疫荧光结合荧光原位杂交技术检测t(4;14)核型,使用Log-rank检验和Cox风险比例回归模型分析FGFR3基因突变与临床特征及预后的相关性。结果 198例患者中,28例(14.1%)伴FGFR3突变。与无FGFR3突变的患者相比,FGFR3突变的患者初诊时白蛋白水平明显降低(P=0.012),β2-微球蛋白水平明显升高(P=0.014),t(4;14)阳性率增加(P<0.001),R-ISS分期Ⅲ期比例更高(P<0.001)。相较于无FGFR3突变患者,FGFR3突变患者具有更短的无进展生存(PFS)期(28个月对33个月,P=0.024)和总生存(OS)期(54个月对未达到,P=0.028)。联合FGFR3突变和t(4;14)进行生存分析,FGFR3突变和(或)t(4;14)阳性患者较FGFR3突变且t(4;14)均阴性组患者PFS期(30个月对38个月,P=0.012)和OS期(54个月对未达到,P=0.017)均缩短。Cox比例风险回归分析显示,FGFR3突变是影响初诊MM患者PFS及OS的独立危险因素。结论 FGFR3基因突变与初诊MM患者预后不良显著相关。Objective This study aimed to investigate the influence of FGFR3 gene mutations on the clinical characteristics and prognosis of patients with newly diagnosed multiple myeloma(NDMM).Methods A total of 198 patients with NDMM admitted to the Department of Hematology in Jiangsu Province Hospital between January 2016 and February 2023 were retrospectively analyzed.Next-generation sequencing and cytoplasmic light chain immunofluorescence with fluorescence in situ hybridization were performed for all patients.The prognostic significance of FGFR3 mutation and clinical features were analyzed using the Log-rank test and Cox proportional hazards model.Results Among 198 patients,28 carried the FGFR3 gene mutation.These patients had significantly lower serum albumin levels,higherβ2-microglobulin levels,advanced Revised International Staging System stages,more frequent occurrence of t(4;14),and shorter median progression-free survival(PFS)time(28 months vs 33 months,P=0.024)and overall survival(OS)time(54 months vs undefined,P=0.028)than patients without FGFR3 mutation.Additionally,patients carrying either FGFR3 mutation or t(4;14)had lower PFS(30 months vs 38 months,P=0.012)and OS(54 months vs undefined,P=0.017)than those without.The Cox proportional hazards model identified FGFR3 mutation as an independent risk factor for PFS and OS.Conclusion FGFR3 gene mutation was an unfavorable independent prognostic predictor for NDMM.

关 键 词：多发性骨髓瘤 基因 FGFR3 t(4 14) 二代测序 基因突变 

分 类 号：R733.3[医药卫生—肿瘤]